Research Article

A LIMA1 variant promotes low plasma LDL cholesterol and decreases intestinal cholesterol absorption

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Science  08 Jun 2018:
Vol. 360, Issue 6393, pp. 1087-1092
DOI: 10.1126/science.aao6575

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A missing link in cholesterol absorption

Cholesterol is important for general health, but too much can build up in artery walls and cause cardiovascular disease. Low-density lipoprotein cholesterol (LDL-C) is often referred to as “bad cholesterol”; keeping LDL-C within stringent limits is recommended to reduce the risk of heart attack and stroke. Zhang et al. discovered that some individuals have an inherited frameshift mutation in the LIMA1 gene (also known as EPLIN or SREBP3). The gene has not been linked to lipid metabolism before, but altered LIMA1 was found to maintain low plasma LDL-C by reducing the absorption of cholesterol through the intestine. Pharmacological targeting through the LIMA1 pathway might thus provide a strategy to improve heart health.

Science, this issue p. 1087